| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36246472G>A | CA5056751 | CLTA,GNE | c.268C>T (p.Arg90Ter) c.-3C>T (n.-3C>T) c.175C>T (p.Arg59Ter) c.486-16726G>A (n.486-16726G>A) c.160C>T (p.Arg54Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.36246472G= | CA1846321203 | CLTA,GNE | c.268C= (p.Arg90=) c.-3C= (n.-3C=) c.175C= (p.Arg59=) c.486-16726G= (n.486-16726G=) c.160C= (p.Arg54=) | dbSNP |
| 9 | g.36246472G>T | CA464620201 | CLTA,GNE | c.268C>A (p.Arg90=) c.-3C>A (n.-3C>A) c.175C>A (p.Arg59=) c.486-16726G>T (n.486-16726G>T) c.160C>A (p.Arg54=) | ClinVar dbSNP |